I haven't been interested in the patient discussions of vitamin deficiencies on the forum, since they rely generally on alternative sources or a great deal of extrapolation. Hence I'm not getting involved in any of those.
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Partial Biotinitase Deficiency, 23andme Test, BTD GENE POLL?
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pattismith
Senior Member
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Taking 300 mg/day of Biotin seems to improve some forms of MS
http://www.sciencedirect.com/science/article/pii/S0028390815300733
Targeting demyelination and virtual hypoxia with high-dose biotin as a treatment for progressive multiple sclerosis (2016)
Highlights
•
High-dose biotin is a promising novel treatment for progressive multiple sclerosis.
•
300 mg biotin daily improved MS-related disability in an open-label study.
•
Biotin is essential for fatty acid synthesis and energy production.
•
High-dose biotin may promote axonal remyelination by enhancing myelin production.
•
High-dose biotin may also reduce axonal hypoxia through enhanced energy production.
"Abstract
Progressive multiple sclerosis (MS) is a severely disabling neurological condition, and an effective treatment is urgently needed. Recently, high-dose biotin has emerged as a promising therapy for affected individuals. Initial clinical data have shown that daily doses of biotin of up to 300 mg can improve objective measures of MS-related disability. In this article, we review the biology of biotin and explore the properties of this ubiquitous coenzyme that may explain the encouraging responses seen in patients with progressive MS. The gradual worsening of neurological disability in patients with progressive MS is caused by progressive axonal loss or damage. The triggers for axonal loss in MS likely include both inflammatory demyelination of the myelin sheath and primary neurodegeneration caused by a state of virtual hypoxia within the neuron. Accordingly, targeting both these pathological processes could be effective in the treatment of progressive MS. Biotin is an essential co-factor for five carboxylases involved in fatty acid synthesis and energy production. We hypothesize that high-dose biotin is exerting a therapeutic effect in patients with progressive MS through two different and complementary mechanisms: by promoting axonal remyelination by enhancing myelin production and by reducing axonal hypoxia through enhanced energy production."
I can't see this paper, but Biotine deficiency causes Mitochondrial Complexe IV deficiency via Pyruvate carboxylase deficiency:
http://www.sciencedirect.com/science/article/pii/S2214426914000718
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
2014
Abstract
Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American type A). Diagnosis was nearly fortuitous, resulting from the revision of an initial diagnosis of mitochondrial complex IV (C IV) defect. The patient presented with severe lactic acidosis and pronounced ketonuria, associated with lethargy at age 23 months. Intellectual disability was noted at this time. Amino acids in plasma and organic acids in urine did not show patterns of interest for the diagnostic work-up. In skin fibroblasts PC showed no detectable activity whereas biotinidase activity was normal. We had previously reported another patient with the severe form of PC deficiency and we show that she also had secondary C IV deficiency in fibroblasts. Different anaplerotic treatments in vivo and in vitro were tested using fibroblasts of both patients with 2 different types of PC deficiency, type A (patient 1) and type B (patient 2). Neither clinical nor biological effects in vivo and in vitro were observed using citrate, aspartate, oxoglutarate and bezafibrate.
In conclusion, this case report suggests that the moderate form of PC deficiency may be underdiagnosed and illustrates the challenges raised by energetic disorders in terms of diagnostic work-up and therapeutical strategy even in a moderate form.
http://www.sciencedirect.com/science/article/pii/S0028390815300733
Targeting demyelination and virtual hypoxia with high-dose biotin as a treatment for progressive multiple sclerosis (2016)
Highlights
•
High-dose biotin is a promising novel treatment for progressive multiple sclerosis.
•
300 mg biotin daily improved MS-related disability in an open-label study.
•
Biotin is essential for fatty acid synthesis and energy production.
•
High-dose biotin may promote axonal remyelination by enhancing myelin production.
•
High-dose biotin may also reduce axonal hypoxia through enhanced energy production.
"Abstract
Progressive multiple sclerosis (MS) is a severely disabling neurological condition, and an effective treatment is urgently needed. Recently, high-dose biotin has emerged as a promising therapy for affected individuals. Initial clinical data have shown that daily doses of biotin of up to 300 mg can improve objective measures of MS-related disability. In this article, we review the biology of biotin and explore the properties of this ubiquitous coenzyme that may explain the encouraging responses seen in patients with progressive MS. The gradual worsening of neurological disability in patients with progressive MS is caused by progressive axonal loss or damage. The triggers for axonal loss in MS likely include both inflammatory demyelination of the myelin sheath and primary neurodegeneration caused by a state of virtual hypoxia within the neuron. Accordingly, targeting both these pathological processes could be effective in the treatment of progressive MS. Biotin is an essential co-factor for five carboxylases involved in fatty acid synthesis and energy production. We hypothesize that high-dose biotin is exerting a therapeutic effect in patients with progressive MS through two different and complementary mechanisms: by promoting axonal remyelination by enhancing myelin production and by reducing axonal hypoxia through enhanced energy production."
I can't see this paper, but Biotine deficiency causes Mitochondrial Complexe IV deficiency via Pyruvate carboxylase deficiency:
http://www.sciencedirect.com/science/article/pii/S2214426914000718
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
2014
Abstract
Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American type A). Diagnosis was nearly fortuitous, resulting from the revision of an initial diagnosis of mitochondrial complex IV (C IV) defect. The patient presented with severe lactic acidosis and pronounced ketonuria, associated with lethargy at age 23 months. Intellectual disability was noted at this time. Amino acids in plasma and organic acids in urine did not show patterns of interest for the diagnostic work-up. In skin fibroblasts PC showed no detectable activity whereas biotinidase activity was normal. We had previously reported another patient with the severe form of PC deficiency and we show that she also had secondary C IV deficiency in fibroblasts. Different anaplerotic treatments in vivo and in vitro were tested using fibroblasts of both patients with 2 different types of PC deficiency, type A (patient 1) and type B (patient 2). Neither clinical nor biological effects in vivo and in vitro were observed using citrate, aspartate, oxoglutarate and bezafibrate.
In conclusion, this case report suggests that the moderate form of PC deficiency may be underdiagnosed and illustrates the challenges raised by energetic disorders in terms of diagnostic work-up and therapeutical strategy even in a moderate form.
aquariusgirl
Senior Member
- Messages
- 1,732
I was told B1 & biotin are the cofactors for pyruvate dehydrogenase. I haven't verified.
I take high doses of both & they have been helpful.
I take high doses of both & they have been helpful.
B1, lipoic acid and B2 are the cofactors for pyruvate dehydrogenase (which converts pyruvate to acetyl CoA). B3 is also used, separately from the enzyme catalysed reaction, to regenerate FAD.
Note that lipoic acid is not a separate cofactor but is synthesised as part of the enzyme, so lipoic acid supplements don't stimulate this reaction (though they may be used as antioxidants).
Biotin (and magnesium or manganese) is a cofactor for pyruvate carboxylase, which converts pyruvate to oxaloacetate.